Aberrant and alternative splicing in cancer

Cancer Research

Volumn 64, Issue 21, 2004, Pages 7647-7654

  Venables, Julian P ^a  

^a NEWCASTLE UNIVERSITY   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

6 FORMYLAMINO 12,13 DIHYDRO 1,11 DIHYDROXY 5H INDOLO[2,3 A]PYRROLO[3,4 C]CARBAZOLE 5,7(6H) DIONE 13 GLUCOSIDE; MEMBRANE PROTEIN; MESSENGER RNA; PROTEIN;

ALTERNATIVE RNA SPLICING; CANCER CELL; CANCER GENETICS; CARCINOGENESIS; DIAGNOSTIC TEST; EXON; EXTRACELLULAR MATRIX; GENE EXPRESSION; GENE MUTATION; GENE TARGETING; GENETIC DISORDER; HUMAN; NONHUMAN; NONSENSE MUTATION; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; REVIEW; RNA SPLICING; SIGNAL TRANSDUCTION; TUMOR SUPPRESSOR GENE;

ALTERNATIVE SPLICING; EXTRACELLULAR MATRIX PROTEINS; HUMANS; MEMBRANE PROTEINS; NEOPLASMS; TRANSCRIPTION FACTORS;

EID: 7444220147     PISSN: 00085472     EISSN: None     Source Type: Journal    
DOI: 10.1158/0008-5472.CAN-04-1910     Document Type: Review

References (101)

1. Faustino NA, Cooper TA. Pre-mRNA splicing and human disease. Genes Dev 2003;17:419-37.
2. Garcia-Blanco MA, Baraniak AP, Lasda EL. Alternative splicing in disease and therapy. Nat Biotechnol 2004;22:535-46.
3. Pagani F, Baralle FE. Genomic variants in exons and introns: identifying the splicing spoilers. Nat Rev Genet 2004;5:389-96.
4. Holmila R, Fouquet C, Cadranel J, Zalcman G, Soussi T. Splice mutations in the p53 gene: case report and review of the literature. Hum Mutat 2003;21:101-2.
5. Tanko Q, Franklin B, Lynch H, Knezetic J. A hMLH1 genomic mutation and associated novel mRNA defects in a hereditary non-polyposis colorectal cancer family. Mutat Res 2002;503:37-42.
6. Taylor MD, Gokgoz N, Andrulis IL, Mainprize TG, Drake JM, Rutka JT. Familial posterior fossa brain tumors of infancy secondary to germline mutation of the hSNF5 gene. Am J Hum Genet 2000;66:1403-6.
7. Kurahashi H, Takami K, Oue T, et al. Biallelic inactivation of the APC gene in hepatoblastoma. Cancer Res 1995;55:5007-11.
8. Broeks A, Urbanus JH, de Knijff P, et al. J IVS10-6T>G, an ancient ATM germline mutation linked with breast cancer Hum Mutat 2003;21:521-8.
9. Clarke LA, Veiga I, Isidro G, et al. Pathological exon skipping in an HNPCC proband with MLH1 splice acceptor site mutation. Genes Chromosomes Cancer 2000;29:367-70.
10. Schubert EL, Strong LC, Hansen MF. A splicing mutation in RB1 in low penetrance retinoblastoma. Hum Genet 1997;100:557-63.
11. Hoffman JD, Hallam SE, Venne VL, Lyon E, Ward K. Implications of a novel cryptic splice site in the BRCA1 gene. Am J Med Genet 1998;80:140-4.
12. Wang M, Dotzlaw H, Fuqua SA, Murphy LC. A point mutation in the human estrogen receptor gene is associated with the expression of an abnormal estrogen receptor mRNA containing a 69 novel nucleotide insertion. Breast Cancer Res. Treat 1997;44:145-51.
13. De Klein A, Riegman PH, Bijlsma EK, et al. A G->A transition creates a branch point sequence and activation of a cryptic exon, resulting in the hereditary disorder neurofibromatosis 2. Hum Mol Genet 1998;7:393-8.
14. Black DL. Mechanisms of alternative pre-messenger RNA splicing. Annu Rev Biochem 2003;72:291-336.
15. Maniatis T, Tasic B. Alternative pre-mRNA splicing and proteome expansion in metazoans. Nature 2002;418:236-43.
16. Colapietro P, Gervasini C, Natacci F, Rossi L, Riva P, Larizza L. NF1 exon 7 skipping and sequence alterations in exonic splice enhancers (ESEs) in a neurofibromatosis 1 patient. Hum Genet 2003;113:551-4.
17. Montera M, Piaggio F, Marchese C, et al. A silent mutation in exon 14 of the APC gene is associated with exon skipping in a FAP family. J Med Genet 2001;38:863-7.
18. Nystrom-Lahti M, Holmberg M, Fidalgo P, et al. Missense and nonsense mutations in codon 659 of MLH1 cause aberrant splicing of messenger RNA in HNPCC kindreds. Genes Chromosomes Cancer 1999;26:372-5.
19. Grabowski PJ, Black DL. Alternative RNA splicing in the nervous system. Prog Neurobiol 2001;65:289-308.
20. Venables JP. Alternative splicing in the testes. Curr Opin Genet Dev 2002;12:615-9.
21. Honda K, Yamada T, Seike M, et al. Alternative splice variant of actinin-4 in small cell lung cancer. Oncogene 2004;23:5257-62.
22. Coulson JM, Edgson JL, Woll PJ, Quinn JP. A splice variant of the neuron-restrictive silencer factor repressor is expressed in small cell lung cancer: a potential role in derepression of neuroendocrine genes and a useful clinical marker. Cancer Res 2000;60:1840-4.
23. Zhu X, Daffada AA, Chan CM, Dowsett M. Identification of an exon 3 deletion splice variant androgen receptor mRNA in human breast cancer. Int J Cancer 1997;72:574-80.
24. Misao R, Nakanishi Y, Fujimoto J, Tamaya T. Expression of sex hormone-binding globulin exon VII splicing variant messenger RNA in human uterine endometrial cancers. Cancer Res 1997;57:5579-83.
25. Reiter R, Wellstein A, Riegel AT. An isoform of the coactivator AIB1 that increases hormone and growth factor sensitivity is overexpressed in breast cancer. J Biol Chem 2001;276:39736-41.
26. Saito Y, Kanai Y, Sakamoto M, Saito H, Ishii H, Hirohashi S. Overexpression of a splice variant of DNA methyltransferase 3b, DNMT3b4, associated with DNA hypomethylation on pericentromeric satellite regions during human hepatocarcinogenesis. Proc Natl Acad Sci USA 2002;99:10060-5.
27. Lee DW, Zhang K, Ning ZQ, et al. Proliferation-associated SNF2-like gene (PASG): a SNF2 family member altered in leukemia. Cancer Res 2000;60:3612-22.
28. Scheurlen WG, Senf L. Analysis of the GAP-related domain of the neurofibromatosis type 1 (NF1) gene in childhood brain tumors. Int J Cancer 1995;64:234-8.
29. Matos P, Collard JG, Jordan P. Tumor-related alternatively spliced Rac1b is not regulated by Rho-GDP dissociation inhibitors and exhibits selective downstream signaling. J Biol Chem 2003;278:50442-8.
30. Fiegen D, Haeusler LC, Blumenstein L, et al. Alternative splicing of Rac1 generates Rac1b, a self-activating GTPase. J Biol Chem 2004;279:4743-9.
31. Takino T, Nakada M, Miyamori H, Yamashita J, Yamada KM, Sato H. Crk1 adapter protein modulates cell migration and invasion in glioblastoma. Cancer Res 2003;63:2335-7.
32. Wang L, Duke L, Zhang PS, et al. Alternative splicing disrupts a nuclear localization signal in spleen tyrosine kinase that is required for invasion suppression in breast cancer. Cancer Res 2003;63:4724-30.
33. Huang R, Xing Z, Luan Z, Wu T, Wu X, Hu G. A specific splicing variant of SVH, a novel human armadillo repeat protein, is up-regulated in hepatocellular carcinomas. Cancer Res 2003;63:3775-82.
34. Ding WQ, Cheng ZJ, McElhiney J, Kuntz SM, Miller LJ. Silencing of secretin receptor function by dimerization with a misspliced variant secretin receptor in ductal pancreatic adenocarcinoma. Cancer Res 2002;62:5223-9.
35. Ding WQ, Kuntz SM, Miller LJ. A misspliced form of the cholecystokinin-B/gastrin receptor in pancreatic carcinoma: role of reduced sellular U2AF35 and a suboptimal 3′-splicing site leading to retention of the fourth intron. Cancer Res 2002;62:947-52.
36. Vickers SM, Huang ZQ, MacMillan-Crow L, Greendorfer JS, Thompson JA. Ligand activation of alternatively spliced fibroblast growth factor receptor-1 modulates pancreatic adenocarcinoma cell malignancy. J Gastrointest Surg 2002;6:546-53.
37. Luqmani YA, Mortimer C, Yiangou C, et al. Expression of 2 variant forms of fibroblast growth factor receptor 1 in human breast. Int J Cancer 1995;64:274-9.
38. Yamaguchi F, Saya H, Bruner JM, Morrison RS. Differential expression of two fibroblast growth factor-receptor genes is associated with malignant progression in human astrocytomas. Proc Natl Acad Sci USA 1994;91:484-8.
39. Jin W, Bruno IG, Xie TX, Sanger LJ, Cote GJ. Polypyrimidine tract-binding protein down-regulates fibroblast growth factor receptor 1 alpha-exon inclusion. Cancer Res 2003;63:6154-7.
40. McCutcheon IE, Hentschel SJ, Fuller GN, Jin W, Cote GJ. Expression of the splicing regulator polypyrimidine tract-binding protein in normal and neoplastic brain. Neuro-oncol 2004;6:9-14.
41. Frasca F, Pandini G, Scalia P, et al. Insulin receptor isoform A, a newly recognized, high-affinity insulin-like growth factor II receptor in fetal and cancer cells. Mol Cell Biol 1999;19:3278-88.
42. Vella V, Pandini G, Sciacca L, et al. A novel autocrine loop involving IGF-II and the insulin receptor isoform-A stimulates growth of thyroid cancer. J Clin Endocrinol Metab 2002;87:245-54.
43. Wang L, Lin SH, Wu WG, et al. C-CAM1, a candidate tumor suppressor gene, is abnormally expressed in primary lung cancers. Clin Cancer Res 2000;6:2988-93.
44. Weiss M, Baruch A, Keydar I, Wreschner DH. Preoperative diagnosis of thyroid papillary carcinoma by reverse transcriptase polymerase chain reaction of the MUC1 gene. Int J Cancer 1996;66:55-9.
45. Lee JH, Seo YW, Park SR, Kim YJ, Kim KK. Expression of a splice variant of KAI1, a tumor metastasis suppressor gene, influences tumor invasion and progression. Cancer Res 2003;63:7247-55.
46. Lovecchio M, Maiorano E, Vacca RA, et al. beta 1C Integrin expression in human endometrial proliferative diseases. Am J Pathol 2003;163:2543-53.
47. Naor D, Nedvetzki S, Golan I, Melnik L, Faitelson Y. CD44 in cancer. Crit Rev Clin Lab Sci 2002;39:527-79.
48. Bell MV, Cowper AE, Lefranc MP, Bell JI, Screaton GR. Influence of intron length on alternative splicing of CD44. Mol Cell Biol 1998;18:5930-41.
49. Matter N, Herrlich P, Konig H. Signal-dependent regulation of splicing via phosphorylation of Sam68. Nature 2002;420:691-5.
50. Stauder R, Eisterer W, Thaler J, Gunthert U. CD44 variant isoforms in non-Hodgkin's lymphoma: a new independent prognostic factor. Blood 1995;85:2885-99.
51. Heider KH, Kuthan H, Stehle G, Munzert G. CD44v6: a target for antibody-based cancer therapy. Cancer Immunol Immunother 2004;53:567-79.
52. Borjesson PK, Postema EJ, Roos JC, et al. Phase I therapy study with (186)Relabeled humanized monoclonal antibody BIWA 4 (bivatuzumab) in patients with head and neck squamous cell carcinoma. Clin Cancer Res 2003;9:3961S-72S.
53. Ghigna C, Moroni M, Porta C, Riva S, Biamonti G. Altered expression of heterogenous nuclear ribonucleoproteins and SR factors in human colon adenocarcinomas. Cancer Res 1998;58:5818-24.
54. Finn L, Dougherty G, Finley G, Meisler A, Becich M, Cooper DL. Alternative splicing of CD44 pre-mRNA in human colorectal tumors. Biochem Biophys Res Commun 1994;200:1015-22.
55. Stickeler E, Kittrell F, Medina D, Berget SM. Stage-specific changes in splicing factors and alternative splicing in mammary tumorigenesis. Oncogene 1999;18:3574-82.
56. Galiana-Arnoux D, Lejeune F, Gesnel MC, Stevenin J, Breathnach R, Del Gatto-Konczak F. The CD44 alternative v9 exon contains a splicing enhancer responsive to the SR proteins 9G8, ASF/SF2, and SRp20. J Biol Chem 2003;278:32943-53.
57. Yamaguchi A, Goi T, Taguchi S, et al. Clinical significance of serum levels of CD44 variant exons 8-10 protein in colorectal cancer. J Gastroenterol 1998;33:349-53.
58. Sasaki JI, Tanabe KK, Takahashi K, et al. Expression of CD44 splicing isoforms in lung cancers: dominant expression of CD44v8-10 in non-small cell lung carcinomas. Int J Oncol 1998;12:525-33.
59. Okamoto I, Morisaki T, Sasaki J, et al. Molecular detection of cancer cells by competitive reverse transcription-polymerase chain reaction analysis of specific CD44 variant RNAs. J Natl Cancer Inst 1998;90:307-15.
60. Miyake H, Eto H, Arakawa S, Kamidono S, Hara I. Over expression of CD44V8-10 in urinary exfoliated cells as an independent prognostic predictor in patients with urothelial cancer. J Urol 2002;167:1282-7.
61. Hayes GM, Chiu R, Carpenito C, Dougherty ST, Dougherty GJ. Identification of sequence motifs responsible for the adhesive interaction between exon v10-containing CD44 isoforms. J Biol Chem 2002;277:50529-34.
62. Luther T, Kotzsch M, Meye A, et al. Identification of a novel urokinase receptor splice variant and its prognostic relevance in breast cancer. Thromb Haemost 2003;89:705-17.
63. Tanaka S, Sugimachi K, Saeki H, et al. A novel variant of WISP1 lacking a Von Willebrand type C module overexpressed in scirrhous gastric carcinoma. Oncogene 2001;20:5525-32.
64. Cheung N, Wong MP, Yuen ST, Leung SY, Chung LP. Tissue-specific expression pattern of vascular endothelial growth factor isoforms in the malignant transformation of lung and colon. Hum Pathol 1998;29:910-4.
65. Puente Navazo MD, Valmori D, Ruegg C. The alternatively spliced domain TnFnIII A1A2 of the extracellular matrix protein tenascin-C suppresses activation-induced T lymphocyte proliferation and cytokine production. J Immunol 2001;167:6431-40.
66. Borsi L, Carnemolla B, Nicolo O, Spina B, Tanara G, Zardi L. Expression of different tenascin isoforms in normal, hyperplastic and neoplastic human breast tissues. Int J Cancer 1992;52:688-92.
67. Carnemolla B, Castellani P, Ponassi M, et al. Identification of a glioblastoma-associated tenascin-C isoform by a high affinity recombinant antibody. Am J Pathol 1999;154:1345-52.
68. Castellani P, Borsi L, Carnemolla B, et al. Differentiation between high- and low-grade astrocytoma using a human recombinant antibody to the extra domain-B of fibronectin. Am J Pathol 2002;161:1695-700.
69. Santimaria M, Moscatelli G, Viale GL, et al. Immunoscintigraphic detection of the ED-B domain of fibronectin, a marker of angiogenesis, in patients with cancer. Clin Cancer Res 2003;9:571-9.
70. Ebbinghaus C, Scheuermann J, Neri D, Elia G. Diagnostic and therapeutic applications of recombinant antibodies: targeting the extra-domain B of fibronectin, a marker of tumor angiogenesis. Curr Pharm Des 2004;10:1537-49.
71. Du K, Peng Y, Greenbaum LE, Haber BA, Taub R. HRS/SRp40-mediated inclusion of the fibronectin EIIIB exon, a possible cause of increased EIIIB expression in proliferating liver. Mol Cell Biol 1997;17:4096-104.
72. Matsunaga T, Shirasawa H, Hishiki T, et al. Enhanced expression of N-myc messenger RNA in neuroblastomas found by mass screening. Clin Cancer Res 2000;6:3199-204.
73. Weil R, Levraud JP, Dodon MD, et al. Altered expression of tyrosine kinases of the Src and Syk families in human T-cell leukemia virus type 1-infected T-cell lines. J Virol 1999;73:3709-17.
74. Sigalas I, Calvert AH, Anderson JJ, Neal DE, Lunec J. Alternatively spliced mdm2 transcripts with loss of p53 binding domain sequences: transforming ability and frequent detection in human cancer. Nat Med 1996;2:912-7.
75. Evdokiou A, Atkins GJ, Bouralexis S, et al. Expression of alternatively-spliced MDM2 transcripts in giant cell tumours of bone. Int J Oncol 2001;19:625-32.
76. Matsumoto R, Tada M, Nozaki M, Zhang CL, Sawamura Y, Abe H. Short alternative splice transcripts of the mdm2 oncogene correlate to malignancy in human astrocytic neoplasms. Cancer Res 1998;58:609-13.
77. Evans SC, Viswanathan M, Grier JD, Narayana M, El-Naggar AK, Lozano G. An alternatively spliced HDM2 product increases p53 activity by inhibiting HDM2. Oncogene 2001;20:4041-9.
78. Ermak G, Gerasimov G, Troshina K, et al. Deregulated alternative splicing of CD44 messenger RNA transcripts in neoplastic and nonneoplastic lesions of the human thyroid. Cancer Res 1995;55:4594-8.
79. Lee MP, Feinberg AP. Aberrant splicing but not mutations of TSG101 in human breast cancer. Cancer Res 1997;57:3131-4.
80. Oh Y, Proctor ML, Fan YH, et al. TSG101 is not mutated in lung cancer but a shortened transcript is frequently expressed in small cell lung cancer. Oncogene 1998;17:1141-8.
81. Turpin E, Dalle B, de Roquancourt A, et al. Stress-induced aberrant splicing of TSG101: association to high tumor grade and p53 status in breast cancers. Oncogene 1999;18:7834-7.
82. Klaes R, Kloor M, Willeke F, et al. Significant increase of a specific variant TSG101 transcript during the progression of cervical neoplasia. Eur J Cancer 1999;35:733-7.
83. Hisatomi H, Kohno N, Wakita K, et al. Novel alternatively spliced variant with a deletion of 52 BP in exon 6 of the progesterone receptor gene is observed frequently in breast cancer tissues. Int J Cancer 2003;105:182-5.
84. van Dijk MA, Hart AA, van 't Veer L. J Differences in estrogen receptor alpha variant messenger RNAs between normal human breast tissue and primary breast carcinomas Cancer Res 2000;60:530-3.
85. Borsi L, Allemanni G, Gaggero B, Zardi L. Extracellular pH controls pre-mRNA alternative splicing of tenascin-C in normal, but not in malignantly transformed, cells. Int J Cancer 1996;66:632-5.
86. Hui L, Zhang X, Wu X, Lin Z, Wang Q, Li Y, Hu G. Identification of alternatively spliced mRNA variants related to cancers by genome-wide ESTs alignment. Oncogene 2004;23:3013-23.
87. Xu Q, Lee C. Discovery of novel splice forms and functional analysis of cancer-specific alternative splicing in human expressed sequences. Nucleic Acids Res 2003;31:5635-43.
88. Wang Z, Lo HS, Yang H, et al. Computational analysis and experimental validation of tumor-associated alternative RNA splicing in human cancer. Cancer Res 2003;63:655-7.
89. Sorek R, Basechess O, Safer HM. Expressed sequence tags: clean before using. Correspondence re: Z. Wang et al., computational analysis and experimental validation of tumor-associated alternative RNA splicing in human cancer. Cancer Res 2003;63:655-7. Cancer Res 2003;63:6996; author reply 6996-7.
90. Sorek R, Basechess O, Safer HM. Expressed sequence tags: clean before using. Correspondence re: Z. Wang et al., computational analysis and experimental validation of tumor-associated alternative RNA splicing in human cancer. Cancer Res 2003;63:655-7. Cancer Res 2003;63:6996; author reply 6996-7.
91. Sugahara K, Hayashi T, Dateki N, et al. Possible attenuation of fas-mediated signaling by dominant expression of caspase-8 aberrant isoform in adult T-cell leukemia cells. Int J Hematol 2002;76:50-4.
92. Johnson JM, Castle J, Garrett-Engele P, et al. Genome-wide survey of human alternative pre-mRNA splicing with exon junction microarrays. Science 2003;302:2141-4.
93. Bracco L, Kearsey J. The relevance of alternative RNA splicing to pharmacogenomics. Trends Biotechnol 2003;21:346-53.
94. Wu JY, Tang H, Havlioglu N. Alternative pre-mRNA splicing and regulation of programmed cell death. Prog Mol Subcell Biol 2003;31:153-85.
95. Mercatante DR, Mohler JL, Kole R. Cellular response to an antisense-mediated shift of Bcl-x pre-mRNA splicing and antineoplastic agents. J Biol Chem 2002;277:49374-82.
96. Pollock AS, Turck J, Lovett DH. The prodomain of interleukin 1alpha interacts with elements of the RNA processing apparatus and induces apoptosis in malignant cells. FASEB J 2003;17:203-13.
97. Massiello A, Salas A, Pinkerman RL, Roddy P, Roesser JR, Chalfant CE. Identification of two RNA cis-elements that function to regulate the 5′ splice site selection of Bcl-x pre-mRNA in response to ceramide. J Biol Chem 2004;279:15799-804.
98. Pilch B, Allemand E, Facompre M, et al. Specific inhibition of serine- and arginine-rich splicing factors phosphorylation, spliceosome assembly, and splicing by the antitumor drug NB-506. Cancer Res 2001;61:6876-84.
99. Hayes GM, Carpenito C, Davis PD, Dougherty ST, Dirks JF, Dougherty GJ. Alternative splicing as a novel of means of regulating the expression of therapeutic genes. Cancer Gene Ther 2002;9:133-41.
100. Brinkman BM. Splice variants as cancer biomarkers. Clin Biochem 2004;37:584-94.
101. Caballero OL, de Souza SJ, Brentani RR, Simpson AJG. Alternative spliced transcripts as cancer markers. Disease Markers 2001;17:65-75.